Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices by Yufeng Huang, Wenyue Deng, Hui Huang, Xiankai Zhang, Xiaohong Chen, Jian Ye, Sukun Luo, Ting Yu, Hui Yao, Hao Du, Xuelian He

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Fundoscopic Changes in Maroteaux-Lamy Syndrome by Augusto Magalhães, Jorge Meira, Ana Maria Cunha, Raul Jorge Moreira, Elisa Leão-Teles, Manuel Falcão, Jorge Breda, Fernando Falcão-Reis

“…To describe a clinical case of mucopolysaccharidosis type VI (MPS VI), or Maroteaux-Lamy syndrome, with fundoscopic alterations that may correspond to scleral deposits of glycosaminoglycans. …”
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Maroteaux-Lamy综合征的ARSB基因分析及新突变的致病性鉴定 by 郭东炜, 潘伟绵, 杜敏联, 郭奕斌

“…【目的】对7家拟诊为Maroteaux_Lamy综合征（MPSⅥ）的患儿及其父母进行ARSB基因的突变检测 和新突变的致病性鉴定，以揭示其分子发病机制，为将来的产前/植入前基因诊断等创造前提条件。…”
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